Variant report

Variant	rs310596
Chromosome Location	chr7:150872013-150872014
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr7:150871510-150872346	H1-hESC	embryonic stem cell:	n/a	n/a
2	RFX5	chr7:150871876-150872173	GM12878	blood:	n/a	chr7:150872043-150872052
3	CTCF	chr7:150871940-150872090	SK-N-SH_RA	brain:	n/a	chr7:150871987-150872000
4	RFX5	chr7:150871829-150872348	K562	blood:	n/a	chr7:150872043-150872052
5	E2F6	chr7:150871819-150872090	K562	blood:	n/a	chr7:150872044-150872053 chr7:150871953-150871960 chr7:150871953-150871960 chr7:150872018-150872027 chr7:150871953-150871960 chr7:150871949-150871961 chr7:150871974-150871983 chr7:150872020-150872029
6	CREB1	chr7:150871734-150872266	H1-hESC	embryonic stem cell:	n/a	n/a
7	E2F6	chr7:150871859-150872038	K562	blood:	n/a	chr7:150871953-150871960 chr7:150871953-150871960 chr7:150872018-150872027 chr7:150871953-150871960 chr7:150871949-150871961 chr7:150871974-150871983 chr7:150872020-150872029
8	E2F6	chr7:150871426-150872292	H1-hESC	embryonic stem cell:	n/a	chr7:150872044-150872053 chr7:150871953-150871960 chr7:150871953-150871960 chr7:150872018-150872027 chr7:150871953-150871960 chr7:150871949-150871961 chr7:150871974-150871983 chr7:150872020-150872029
9	CEBPB	chr7:150871960-150872095	H1-hESC	embryonic stem cell:	n/a	chr7:150872044-150872052
10	CTCF	chr7:150871935-150872063	Spleen_OC	spleen:	n/a	chr7:150871987-150872000
11	MAX	chr7:150871870-150872221	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr7:150871616-150872297	H1-hESC	embryonic stem cell:	n/a	n/a
13	NRF1	chr7:150871839-150872155	H1-hESC	embryonic stem cell:	n/a	chr7:150871975-150871984 chr7:150871973-150871987 chr7:150871973-150871984
14	CREB1	chr7:150871708-150872330	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr7:150871957-150872178	H1-hESC	embryonic stem cell:	n/a	n/a
16	RFX5	chr7:150871600-150872532	H1-hESC	embryonic stem cell:	n/a	chr7:150872043-150872052
17	RFX5	chr7:150871688-150872369	SK-N-SH	brain:	n/a	chr7:150872043-150872052
18	USF2	chr7:150871954-150872142	H1-hESC	embryonic stem cell:	n/a	n/a
19	E2F6	chr7:150871209-150872397	H1-hESC	embryonic stem cell:	n/a	chr7:150872044-150872053 chr7:150871953-150871960 chr7:150871953-150871960 chr7:150872018-150872027 chr7:150871953-150871960 chr7:150871949-150871961 chr7:150871974-150871983 chr7:150872020-150872029
20	RFX5	chr7:150871850-150872209	HepG2	liver:	n/a	chr7:150872043-150872052
21	ZBTB33	chr7:150871727-150872129	K562	blood:	n/a	n/a
22	MAX	chr7:150871810-150872072	K562	blood:	n/a	n/a
23	RFX5	chr7:150871514-150872663	IMR90	lung:	n/a	chr7:150872043-150872052
24	ZNF143	chr7:150871996-150872076	H1-hESC	embryonic stem cell:	n/a	n/a
25	CREB1	chr7:150871818-150872290	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150863087..150865291-chr7:150871915..150873592,2	K562	blood:
2	chr7:150811393..150813033-chr7:150871276..150873059,2	MCF-7	breast:
3	chr7:150868839..150872466-chr7:150882758..150884932,3	K562	blood:
4	chr7:150813337..150816221-chr7:150868567..150872033,3	K562	blood:
5	chr7:150819690..150821218-chr7:150869813..150872209,2	K562	blood:
6	chr7:150863436..150865058-chr7:150871430..150873448,2	MCF-7	breast:

Variant related genes	Relation type
GBX1	TF binding region
ENSG00000146926	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000164900	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10241160	1.00[AMR][1000 genomes]
rs10251269	1.00[AMR][1000 genomes]
rs34402122	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
4	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
7	nsv609034	chr7:150830015-150893629	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150865600-150877800	Weak transcription	Right Atrium	heart
2	chr7:150868600-150877800	Weak transcription	Left Ventricle	heart
3	chr7:150870000-150872400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:150871800-150872200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:150871800-150872200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr7:150871800-150872200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr7:150871800-150872200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
8	chr7:150871800-150872600	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr7:150871800-150872600	Enhancers	Right Ventricle	heart
10	chr7:150872000-150872200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr7:150872000-150872200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
12	chr7:150872000-150872200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:150872000-150872200	Bivalent Enhancer	Adipose Nuclei	Adipose
14	chr7:150872000-150872200	Bivalent Enhancer	Placenta	Placenta
15	chr7:150872000-150872200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr7:150872000-150872600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:150872000-150877800	Genic enhancers	Skeletal Muscle Male	skeletal muscle

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